Canonical Allele Identifier: CA2576816030

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352552del , CM000681.2:g.45352552del	GRCh38
NC_000019.9:g.45855810del , CM000681.1:g.45855810del	GRCh37
NC_000019.8:g.50547650del	NCBI36
NG_007067.2:g.23037del , LRG_461:g.23037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2001del	ENSP00000375808.4:p.Ile668SerfsTer?
ENST00000682414.1:c.2001del	ENSP00000507019.1:p.Ile668SerfsTer?
ENST00000682508.1:n.2030del
ENST00000684218.1:c.*1259del	ENSP00000507804.1:n.*1259del
ENST00000684264.1:n.1557del
ENST00000684407.1:c.1878del	ENSP00000507775.1:p.Ile627SerfsTer?
ENST00000684458.1:c.*487del	ENSP00000508260.1:n.*487del
ENST00000684468.1:n.1713del
ENST00000391945.10:c.2001del MANE Select	ENSP00000375809.4:p.Ile668SerfsTer?
ENST00000646507.1:n.2098del
ENST00000391941.6:c.1929del	ENSP00000375805.2:p.Ile644SerfsTer?
ENST00000391942.6:n.1172del
ENST00000391944.7:c.1767del	ENSP00000375808.3:p.Ile590SerfsTer?
ENST00000391945.8:c.2001del	ENSP00000375809.3:p.Ile668SerfsTer?
ENST00000588652.5:n.2089del
NM_000400.3:c.2001del , LRG_461t1:c.2001del	NP_000391.1:p.Ile668SerfsTer?
XM_011526611.1:c.1923del	XP_011524913.1:p.Ile642SerfsTer?
XM_011526611.2:c.1923del	XP_011524913.1:p.Ile642SerfsTer?
XM_017026467.1:c.1878del	XP_016881956.1:p.Ile627SerfsTer?
XR_001753633.2:n.2048del
XR_001753634.2:n.1984del
NM_000400.4:c.2001del MANE Select	NP_000391.1:p.Ile668SerfsTer?